Canavan Disease: First Normocephalic Case from North Cyprus

Dirik, Mehmet Alp; Şanlıdağ, Burçin; Bulakbaşı, Nail; Sekakinci, Nedime; Dırık, Eray

doi:10.5152/cjms.2018.325

Cited by 2 publications

(3 citation statements)

References 13 publications

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“…Similar findings of normal head size have also been noted by other authors. [ 6 11 12 13 ] We had earlier reported a case of CD with microcephaly. [ 14 ] The reason for small head is not clearly known.…”

Section: Discussionmentioning

confidence: 99%

Canavan Disease: Clinical and laboratory profile from Southern part of India

Gowda

Bharathi

Bettaiah

et al. 2021

Ann Indian Acad Neurol

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Background: Canavan disease (CD) is an autosomal recessively inherited leukodystrophy. It affects one in 6,400 to 13,500 people in the Jewish population. However, prevalence and presentation of the disease in India is largely unknown; hence, we are reporting this series. Methods: This is a retrospective chart review in a tertiary care hospital from January 2015 to March 2020. CD was confirmed by elevated N- acetyl aspartate (NAA) levels in urinary gas chromatography and mass spectrometry (GCMS)/increased NAA peak in magnetic resonance spectroscopy (MRS) and/or detection of mutations. The data was extracted in a predesigned proforma and analyzed. Results: We had 12 children with mean age at presentation being 6.8 months (range 3 months to 10 months.). Males were more commonly affected (83.3%, n = 10). Ten children (83.3%) were born out of consanguineous parentage. All of them had visual impairment and pyramidal signs. Seizures were noted in five (42%) children. Normal head size in three (25%) and microcephaly in two (16.66%) cases were noted. Magnetic resonance imaging (MRI) revealed signal changes with bilateral symmetric T2W white matter (WM) hyperintensities in subcortical U fibers in all cases. MRS was done in ten children, all of which showed increased NAA peak. Increased level of NAA in urinary GCMS was noted in six out of eight children. Six cases had homozygous pathogenic variants in ASPA gene. Antenatal diagnosis helped in prevention of recurrence in three families. Conclusion: Urinary NAA and MRS showing NAA peak are useful in diagnosis of CD. Macrocephaly is not a necessary finding to diagnose CD. Early diagnosis helps in genetic counseling and prevention of subsequent conceptions.

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Section: Discussionmentioning

confidence: 99%

Canavan Disease: Clinical and laboratory profile from Southern part of India

Gowda

Bharathi

Bettaiah

et al. 2021

Ann Indian Acad Neurol

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“…9 There are, however, a few cases that also report normocephaly or microcephaly. [29][30][31][32] Ataxia, poor sucking, and intellectual disabilities have also been reported in CD patients. 9 In the later stages of the disease, patients develop optic atrophy and spasticity.…”

Section: Review Articlementioning

confidence: 99%

“…41,42 An example of MRI and MRS of a patient with CD is shown in Figure 1. 31 Elevation of NAA in the brain can be detected by MRS before detecting an increase in the levels of NAA in the urine, therefore making MRS a favorable early diagnostic tool CD. 53 Genetic Testing Genetic testing is not only important for the diagnosis of CD but also critical for genetic counseling and prenatal testing.…”

Section: Main Pointsmentioning

confidence: 99%

Canavan Disease and Recent Advances

Dirik¹,

Şanlıdağ²,

Dırık³

et al. 2021

Cyprus J Med Sci

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Canavan disease (CD) is a rare autosomal recessively inherited leukodystrophy. The genetic defect related to the aspartoacylase gene. The clinical characteristics of CD include hypotonia, macrocephaly, developmental delay, and visual impairment within the first year of life. There is currently no cure for CD, however, new therapeutic modalities and gene therapy options are under investigation. Possible mechanisms in the pathogenesis include astrocytic edema caused by N-acetyl-L-aspartic acid (NAA) serving as a water pump and diminished acetate that is required for myelin synthesis. The current diagnostic approach to identify CD cases includes the demonstration of increased urinary NAA level, diminished or absence of enzyme activity in cultured skin fibroblasts, the loss of white matter including U-fibers in magnetic resonance (MR) imaging, NAA peak in MR spectroscopy (MRS), and genetic testing, in which more than 70 mutations have been identified. Among these diagnostic approaches, the NAA peak detected with the use of MRS is highly characteristic of CD and is the cornerstone in early diagnosis.

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Canavan Disease: First Normocephalic Case from North Cyprus

Cited by 2 publications

References 13 publications

Canavan Disease: Clinical and laboratory profile from Southern part of India

Canavan Disease: Clinical and laboratory profile from Southern part of India

Canavan Disease and Recent Advances

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